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The purpose of this research study is to 1) validate the use of surveys such as fatigue scales, Mitochondrial Disease scales, and quality of life scales, 2) validate clinical exams, such as muscle strength tests, and the 6 minute walk test, and 3) to define the natural history of the disease in the Mitochondrial Disease patient population.
The purpose of this study is to find out if an investigational drug called setmelanotide (RM-493) can help control body weight in people with certain genetic modifications in their genes that play a key role in the regulation of body weight. Males and females, age 6 to 65, with certain genetic variants (MC4R pathway) may be eligible to participate. If you are confirmed eligible for the study, then participation will last up to 48 Weeks. Participants will complete Screening (Up to 8 Weeks), Open-Label Treatment (Up to 16 Weeks), and may be eligible to continue in the Double-Blind Treatment Period (Up to 24 Weeks). Participants will complete research procedures including physical exams, blood draws, ECGs, and questionnaires. Participant will also need to self-inject the study drug once daily for the duration of their participation.
The University of Pennsylvania, in collaboration with CHOP, is conducting a study to find out more about how behaviors (eating, physical activity, sleep) and genes affect growth and development in children. Participants will include children, ages 5 to 7, and their mothers.Families will be asked to participate in a screening visit and 3 study visits over 1 year. Child participants will be asked to:
This research is studying a vaccine against Mpox (formerly known as monkeypox) that is FDA approved for adults but not yet approved for children. The goal of the study is to determine if the vaccine protects children just as well as it protects adults. The study is also looking at the safety of the vaccine. This study is open to healthy adolescents, ages 12-17. In addition, adolescents with certain immunodeficiency diseases or other conditions, that are well controlled, are eligible to participate.
CAR T cell therapy has shifted the treatment landscape for pediatric and young adult patients with advanced B-cell leukemias. This study aims to treat patients with relapsed disease by administering two CART cell products, huCART19 and CART22-65s. The study will determine the safety and efficacy and usefulness of administering two CAR T cell products in patients with advanced B-cell leukemias. This is a Phase 1/2b trial for the treatment of patients with either advanced or refractory B cell Acute Lymphoblastic Leukemia or B-lineage lymphoblastic lymphoma. Possible procedures include medical record review, apheresis, huCART19 infusion, blood draws, physical exams, imaging, and disease assessments through bone marrows and lumbar punctures. Overall, approximately 93 subjects will be enrolled on this clinical trial.
Inherited Metabolic Disorders (IMD) are single gene conditions that affect metabolic pathways. IMD are individually rare, but collectively common. Advances in diagnosis and management have greatly increased the life expectancy of patients with IMD. Gaps in our knowledge about adult neurocognitive outcomes and quality of life confounds the ability to obtain critical therapeutic supports, including social services and vocational rehabilitation. The lack of information also complicates our ability to provide anticipatory guidance to the families of younger patients about prognosis and how to optimize outcome. This study examines neurocognitive outcomes for adults with IMD with a focus on executive and adaptive function, domains necessary for managing life skills, using an entirely remote format.
Participants in this study will complete online surveys on their life skills, medical self-management skills, and quality of life. Thinking skills will be assessed through online questionnaires and a web-based collection of games that test executive function. Some participants will be asked to take part in an interview about their experience as an adult and the transition from pediatric to adult-centered healthcare.
The Mitochondrial Medicine Program at the Childrens Hospital of Philadelphia is conducting a study focusing on non-invasive MRI procedures to measure biological activity within leg muscles of individuals, including both healthy volunteers and those with mitochondrial disease. This type of MRI is for research only, and it is not currently approved by the FDA. There is no direct benefit, but this research may contribute to future mitochondrial medicine. Your participation will last for approximately half a day during a visit at CHOP. We hope this research will contribute to the current knowledge of mitochondrial disease and improve diagnostic approaches. To learn more or inquire about this research study, please contact Sara Nguyen (nguyens2@chop.edu)
This study is being done to understand how the brain of autistic adolescents and adults process sound and language. We hope the information gained from this study may lead to future therapies for language difficulties in autistic individuals.
This study aims to design and optimize the Hypothyroidism Treatment Satisfaction Questionnaire (ThyTSQ) for measuring treatment satisfaction among teenage patients on thyroid hormone supplementation and parents of children of any age treated for hypothyroidism.
The goal of this research study is to transform outcomes for all people affected by single ventricle heart disease, particularly those with Fontan circulation. The Fontan Outcomes Network (FON) strives to advance our understanding of, and care for, single ventricle heart disease and address some of the major challenges. The ultimate goal is to dramatically improve physical health and functioning, neurodevelopment, and emotional health and resilience. To achieve that, we will collaborate between many care centers and with individuals with single ventricle heart disease and their families, to systematically collect information across the entire lifespan. FON includes a registry study, meaning information will be collected by your doctors and the researchers and entered and stored in a bank of information called a registry to be used for research as well as a learning network for quality improvement initiatives.